Seroatlas · Human Serome Atlas

CFAP65

Cilia- and flagella-associated protein 65

Also known as: CCDC108, CFA65_HUMAN, DKFZp434O0527, MGC35338

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6ZU64
Gene: CFAP65
Ensembl: ENSG00000181378
Chromosome: 2
Canonical length: 1925 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Secretome location: Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

1925 residues, UniProt reviewed canonical sequence.

>Q6ZU64|CFAP65
     1  MFTLTGCRLV EKTQKVENPS VSFASSFPLI PLLLRGKSVQ KKQAESKSQI KLHTQSAPFG
    61  LCPKDMMLTQ APSSVVRSRN SRNHTVNSGG SCLSASTVAI PAINDSSAAM SACSTISAQP
   121  ASSMDTQMHS PKKQERVNKR VIWGIEVAEE LHWKGWELGK ETTRNLVLKN RSLKLQKMKY
   181  RPPKTKFFFT VIPQPIFLSP GITLTLPIVF RPLEAKEYMD QLWFEKAEGM FCVGLRATLP
   241  CHRLICRPPS LQLPMCAVGD TTEAFFCLDN VGDLPTFFTW EFSSPFQMLP ATGLLEPGQA
   301  SQIKVTFQPL TAVIYEVQAT CWYGAGSRQR SSIQLQAVAK CAQLLVSIKH KCPEDQDAEG
   361  FQKLLYFGSV AVGCTSERQI RLHNPSAVNA PFRIEISPDE LAEDQAFSCP TAHGIVLPGE
   421  KKCVSVFFHP KTLDTRTVDY CSIMPSGCAS KTLLKVVGFC RGPAVSLQHY CVNFSWVNLG
   481  ERSEQPLWIE NQSDCTAHFQ FAIDCLESVF TIRPAFGTLV GKARMTLHCA FQPTHPIICF
   541  RRVACLIHHQ DPLFLDLMGT CHSDSTKPAI LKPQHLTWYR THLARGLTLY PPDILDAMLK
   601  EKKLAQDQNG ALMIPIQDLE DMPAPQYPYI PPMTEFFFDG TSDITIFPPP ISVEPVEVDF
   661  GACPGPEAPN PVPLCLMNHT KGKIMVVWTR RSDCPFWVTP ESCDVPPLKS MAMRLHFQPP
   721  HPNCLYTVEL EAFAIYKVLQ SYSNIEEDCT MCPSWCLTVR ARGHSYFAGF EHHIPQYSLD
   781  VPKLFPAVSS GEPTYRSLLL VNKDCKLLTF SLAPQRGSDV ILRPTSGLVA PGAHQIILIC
   841  TYPEGSSWKQ HTFYLQCNAS PQYLKEVSMY SREEPLQLKL DTHKSLYFKP TWVGCSSTSP
   901  FTFRNPSRLP LQFEWRVSEQ HRKLLAVQPS RGLIQPNERL TLTWTFSPLE ETKYLFQVGM
   961  WVWEAGLSPN ANPAATTHYM LRLVGVGLTS SLSAKEKELA FGNVLVNSKQ SRFLVLLNDG
  1021  NCTLYYRLYL EQGSPEAVDN HPLALQLDRT EGSMPPRSQD TICLTACPKQ RSQYSWTITY
  1081  SLLSHRDNKA GEKQELCCVS LVAVYPLLSI LDVSSMGSAE GITRKHLWRL FSLDLLNSYL
  1141  ERDPTPCELT YKVPTRHSMS QIPPVLTPLR LDFNFGAAPF KAPPSVVFLA LKNSGVVSLD
  1201  WAFLLPSDQR IDVELWAEQA ELNSTELHQM RVQDNCLFSI SPKAGSLSPG QEQMVELKYS
  1261  HLFIGTDHLP VLFKVSHGRE ILLNFIGVTV KPEQKYVHFT STTHQFIPIP IGDTLPPRQI
  1321  YELYNGGSVP VTYEVQTDVL SQVQEKNFDH PIFCCLNPKG EIQPGSTARV LWIFSPIEAK
  1381  TYTVDVPIHI LGWNSALIHF QGVGYNPHMM GDTAPFHNIS SWDNSSIHSR LVVPGQNVFL
  1441  SQSHISLGNI PVQSKCSRLL FLNNISKNEE IAFSWQPSPL DFGEVSVSPM IGVVAPEETV
  1501  PFVVTLRASV HASFYSADLV CKLYSQQLMR QYHKELQEWK DEKVRQEVEF TITDMKVKKR
  1561  TCCTACEPAR KYKTLPPIKN QQSVSRPASW KLQTPKEEVS WPCPQPPSPG MLCLGLTARA
  1621  HATDYFLANF FSEFPCHFLH RELPKRKAPR EESETSEEKS PNKWGPVSKQ KKQLLVDILT
  1681  TIIRGLLEDK NFHEAVDQSL VEQVPYFRQF WNEQSTKFMD QKNSLYLMPI LPVPSSSWED
  1741  GKGKQPKEDR PEHYPGLGKK EEGEEEKGEE EEEELEEEEE EEEETEEEEL GKEEIEEKEE
  1801  ERDEKEEKVS WAGIGPTPQP ESQESMQWQW QQQLNVMVKE EQEQDEKEAI RRLPAFANLQ
  1861  EALLENMIQN ILVEASRGEV VLTSRPRVIA LPPFCVPRSL TPDTLLPTQQ AEVLHPVVPL
  1921  PTDLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CFAP65 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.36
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 24 nTPM
choroid plexus: 8.9 nTPM
testis: 8.8 nTPM
retina: 8.5 nTPM
pituitary gland: 3.2 nTPM
lung: 2.6 nTPM

Single-cell type

late spermatids: 309 nCPM
early spermatids: 270 nCPM
ependymal cells: 202 nCPM
respiratory ciliated cells: 182 nCPM
late primary spermatocytes: 167 nCPM
fallopian tube ciliated cells: 128 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 29 nTPM
midbrain: 26 nTPM
medulla oblongata: 19 nTPM
spinal cord: 13 nTPM
pons: 8.8 nTPM
white matter: 7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CFAP65.

Disease | AllUniProt

Conditions CFAP65 is implicated in, by any mechanism.

Spermatogenic failure 40 (SPGF40) MIM:618664

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 97 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 40
CFAP65-related disorder
Susceptibility to severe COVID-19

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.78
gnomAD pLI: 0
DepMap mean gene effect: 0.03
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Major sperm protein (MSP) domain
Immunoglobulin-like fold
HYDIN/VesB/CFA65-like, Ig-like domain
HYDIN/CFA65/VesB-like, Ig-like domain
Cilia-Flagella-Associated Protein 65
CFAP65, tenth Ig-like domain
CFAP65-like, ninth Ig-like domain
CFAP65, eight Ig-like domain
CFAP65, seventh Ig-like domain
CFAP65, fourth Ig-like domain
Cilia- and flagella-associated protein 65-like, Ig-like domain
CFAP65, fourth Ig-like domain
Cilia- and flagella-associated protein 65-like, Ig-like domain
CFAP65, eight Ig-like domain
CFAP65, seventh Ig-like domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CFAP65 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CFAP65 as an antibody target. Whether an autoantibody or antibody against CFAP65 could matter depends on whether native CFAP65 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CFAP65 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CFAP65 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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